Varaico: Literature-Extracted Genetic Variants

Gene:EPRS1
Variant:p.T3A
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EPRS1

NM_004446.3:p.T3A

Associated Papers

Isoleucylation properties of native human mitochondrial tRNAIle and tRNAIle transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAIle gene.

Degoul F et al.

Human Molecular Genetics, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."